A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4201n100



Internal ID19014569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241793613..242017881hg38UCSC Ensembl
chr2:242733028..242960032hg19UCSC Ensembl
chr2:242381701..242608705hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38224269
hg19227005
hg18227005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007423, nsv1005583
Samples
Known GenesCXXC11, GAL3ST2, NEU4, PDCD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4201n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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